Canonical Allele Identifier: CA373623758

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71687638T>C (hg19) ; chr9:g.69072722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072722T>C , CM000671.2:g.69072722T>C	GRCh38
NC_000009.11:g.71687638T>C , CM000671.1:g.71687638T>C	GRCh37
NC_000009.10:g.70877458T>C	NCBI36
NG_008845.2:g.42160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.368T>C	ENSP00000366482.4:p.Leu123Pro
ENST00000484259.3:c.593T>C MANE Select	ENSP00000419243.2:p.Leu198Pro
ENST00000642330.1:c.384+19462T>C	ENSP00000493770.1:n.384+19462T>C
ENST00000642889.1:c.166-27179T>C	ENSP00000493780.1:n.166-27179T>C
ENST00000643352.1:c.482+7687T>C	ENSP00000496488.1:n.482+7687T>C
ENST00000643765.1:c.480+7687T>C
ENST00000644653.1:c.*196T>C	ENSP00000495217.1:n.*196T>C
ENST00000644977.1:c.*207+7687T>C	ENSP00000495651.1:n.*207+7687T>C
ENST00000645088.1:c.*85+7687T>C	ENSP00000495447.1:n.*85+7687T>C
ENST00000646862.1:c.384+19462T>C	ENSP00000494599.1:n.384+19462T>C
ENST00000377270.7:c.593T>C	ENSP00000366482.3:p.Leu198Pro
ENST00000396364.7:c.482+7687T>C	ENSP00000379650.3:n.482+7687T>C
ENST00000396366.6:c.*10T>C	ENSP00000379652.2:n.*10T>C
ENST00000484259.1:c.285T>C
ENST00000498653.5:c.368T>C	ENSP00000418015.1:p.Leu123Pro
NM_000144.4:c.593T>C	NP_000135.2:p.Leu198Pro
NM_001161706.1:c.482+7687T>C	NP_001155178.1:n.482+7687T>C
NM_181425.2:c.*10T>C	NP_852090.1:n.*10T>C
NM_000144.5:c.593T>C MANE Select	NP_000135.2:p.Leu198Pro
NM_181425.3:c.*10T>C	NP_852090.1:n.*10T>C